ClinGen Allele Registry
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Canonical Allele Identifier:
PA309973
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000184587
RCV000471332
RCV000993449
RCV002444750
RCV003335182
RCV003486749
ClinVar Variation:
202683
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001254479.2:p.Glu16738Lys
CA309971
NM_001267550.2:c.50212G>A